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Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features
| Autores principales: | , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8436746/ https://www.ncbi.nlm.nih.gov/pubmed/33964184 http://dx.doi.org/10.1002/ajmg.a.62221 |
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| author | Efthymiou, Stephanie Herman, Isabella Rahman, Fatima Anwar, Najwa Maroofian, Reza Yip, Janice Mitani, Tadahiro Calame, Daniel G. Hunter, Jill V. Sutton, V. Reid Yilmaz Gulec, Elif Duan, Ruizhi Fatih, Jawid M. Marafi, Dana Pehlivan, Davut Jhangiani, Shalini N. Gibbs, Richard A. Posey, Jennifer E. Maqbool, Shazia Lupski, James R. Houlden, Henry |
| author_facet | Efthymiou, Stephanie Herman, Isabella Rahman, Fatima Anwar, Najwa Maroofian, Reza Yip, Janice Mitani, Tadahiro Calame, Daniel G. Hunter, Jill V. Sutton, V. Reid Yilmaz Gulec, Elif Duan, Ruizhi Fatih, Jawid M. Marafi, Dana Pehlivan, Davut Jhangiani, Shalini N. Gibbs, Richard A. Posey, Jennifer E. Maqbool, Shazia Lupski, James R. Houlden, Henry |
| author_sort | Efthymiou, Stephanie |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-8436746 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | John Wiley & Sons, Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-84367462021-09-16 Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features Efthymiou, Stephanie Herman, Isabella Rahman, Fatima Anwar, Najwa Maroofian, Reza Yip, Janice Mitani, Tadahiro Calame, Daniel G. Hunter, Jill V. Sutton, V. Reid Yilmaz Gulec, Elif Duan, Ruizhi Fatih, Jawid M. Marafi, Dana Pehlivan, Davut Jhangiani, Shalini N. Gibbs, Richard A. Posey, Jennifer E. Maqbool, Shazia Lupski, James R. Houlden, Henry Am J Med Genet A Research Letters John Wiley & Sons, Inc. 2021-05-08 2021-07 /pmc/articles/PMC8436746/ /pubmed/33964184 http://dx.doi.org/10.1002/ajmg.a.62221 Text en © 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Research Letters Efthymiou, Stephanie Herman, Isabella Rahman, Fatima Anwar, Najwa Maroofian, Reza Yip, Janice Mitani, Tadahiro Calame, Daniel G. Hunter, Jill V. Sutton, V. Reid Yilmaz Gulec, Elif Duan, Ruizhi Fatih, Jawid M. Marafi, Dana Pehlivan, Davut Jhangiani, Shalini N. Gibbs, Richard A. Posey, Jennifer E. Maqbool, Shazia Lupski, James R. Houlden, Henry Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features |
| title | Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features |
| title_full | Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features |
| title_fullStr | Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features |
| title_full_unstemmed | Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features |
| title_short | Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features |
| title_sort | two novel bi‐allelic kdelr2 missense variants cause osteogenesis imperfecta with neurodevelopmental features |
| topic | Research Letters |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8436746/ https://www.ncbi.nlm.nih.gov/pubmed/33964184 http://dx.doi.org/10.1002/ajmg.a.62221 |
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